Clinical diagnosis of single-gene disorders and chromosomal abnormalities based on BGISEQ-500 platform
Yanqiu Liu, Liangwei Mao, Xiaoming Wei, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Wei Li, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Hui Huang
This study develops a chip-based sequencing method to detect monogenic diseases and chromosomal abnormalities, identifying 102 mutations in 63 patients with 69 new mutations.
bioRxiv · Jun 26, 2019 · PreprintGenomics